Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1048170703

Gene:

Linked Data

dbSNP Id: rs2050008745

gnomAD v3: 3-55279399-AATG-A

gnomAD v4: 3-55279399-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.55279404_55279406del , CM000665.2:g.55279404_55279406del	GRCh38
NC_000003.11:g.55313432_55313434del , CM000665.1:g.55313432_55313434del	GRCh37
NC_000003.10:g.55288472_55288474del	NCBI36

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